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2022

Halford JL, Morrill VN, Choi SHoan, Jurgens SJ, Melloni G, Marston NA, Weng L-C, Nauffal V, Hall AW, Gunn S, et al. Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 ;13(1):5106.

Yang Y, Knol MJ, Wang R, Mishra A, Liu D, Luciano M, Teumer A, Armstrong N, Bis JC, Jhun MA, et al. Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI. Brain. 2022 .

Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MSunitha, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, et al. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.

Thériault S, Imboden M, Biggs ML, Austin TR, Aeschbacher S, Schaffner E, Brody JA, Bartz TM, Risch M, Grossmann K, et al. Genome-wide analyses identify as a susceptibility locus for premature atrial contraction frequency. iScience. 2022 ;25(10):105210.

Kelly TN, Sun X, He KY, Brown MR, Taliun SAGagliano, Hellwege JN, Irvin MR, Mi X, Brody JA, Franceschini N, et al. Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension. Hypertension. 2022 :101161HYPERTENSIONAHA12219324.

Huan T, Nguyen S, Colicino E, Ochoa-Rosales C, W Hill D, Brody JA, Soerensen M, Zhang Y, Baldassari A, Elhadad MAhmed, et al. Integrative analysis of clinical and epigenetic biomarkers of mortality. Aging Cell. 2022 ;21(6):e13608.

Mahajan A, Spracklen CN, Zhang W, C Y Ng M, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, Kim YJin, et al. Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. Nat Genet. 2022 ;54(5):560-572.

Elgart M, Lyons G, Romero-Brufau S, Kurniansyah N, Brody JA, Guo X, Lin HJ, Raffield L, Gao Y, Chen H, et al. Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations. Commun Biol. 2022 ;5(1):856.

Austin TR, McHugh CP, Brody JA, Bis JC, Sitlani CM, Bartz TM, Biggs ML, Bansal N, Bůzková P, Carr SA, et al. Proteomics and Population Biology in the Cardiovascular Health Study (CHS): design of a study with mentored access and active data sharing. Eur J Epidemiol. 2022 .

Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MSunitha, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, et al. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.

Jang S-K, Evans L, Fialkowski A, Arnett DK, Ashley-Koch AE, Barnes KC, Becker DM, Bis JC, Blangero J, Bleecker ER, et al. Rare genetic variants explain missing heritability in smoking. Nat Hum Behav. 2022 .

Wang Z, Choi SWan, Chami N, Boerwinkle E, Fornage M, Redline S, Bis JC, Brody JA, Psaty BM, Kim W, et al. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.

Pankratz N, Wei P, Brody JA, Chen M-H, Vries PS, Huffman JE, Stimson MRachel, Auer PL, Boerwinkle E, Cushman M, et al. Whole exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 .

DiCorpo D, Gaynor SM, Russell EM, Westerman KE, Raffield LM, Majarian TD, Wu P, Sarnowski C, Highland HM, Jackson A, et al. Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program. Commun Biol. 2022 ;5(1):756.

Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf G, Franceschini N, Tin A, et al. Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated with Diabetic Kidney Disease. Hum Mol Genet. 2022 .

2021

Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, et al. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.

Graff M, Justice AE, Young KL, Marouli E, Zhang X, Fine RS, Lim E, Buchanan V, Rand K, Feitosa MF, et al. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. Am J Hum Genet. 2021 ;108(4):564-582.

Roberts JD, Vittinghoff E, Lu AT, Alonso A, Wang B, Sitlani CM, Mohammadi-Shemirani P, Fornage M, Kornej J, Brody JA, et al. Epigenetic Age and the Risk of Incident Atrial Fibrillation. Circulation. 2021 ;144(24):1899-1911.

Thibord F, Song C, Pattee J, Rodriguez BAT, Chen M-H, O'Donnell CJ, Kleber ME, Delgado GE, Guo X, Yao J, et al. FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer. J Thromb Haemost. 2021 .

Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, et al. Genetic insights into biological mechanisms governing human ovarian ageing. Nature. 2021 ;596(7872):393-397.

Yang Y, Bartz TM, Brown MR, Guo X, Zilhão NR, Trompet S, Weiss S, Yao J, Brody JA, deFilippi CR, et al. Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. Circ Genom Precis Med. 2021 ;14(6):e003460.

Portilla-Fernández E, Hwang S-J, Wilson R, Maddock J, W Hill D, Teumer A, Mishra PP, Brody JA, Joehanes R, Ligthart S, et al. Meta-analysis of epigenome-wide association studies of carotid intima-media thickness. Eur J Epidemiol. 2021 .

Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAGagliano, Corvelo A, Gogarten SM, Kang HMin, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 ;590(7845):290-299.

Lin BM, Grinde KE, Brody JA, Breeze CE, Raffield LM, Mychaleckyj JC, Thornton TA, Perry JA, Baier LJ, Fuentes Lde Las, et al. Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium. EBioMedicine. 2021 ;63:103157.

Little A, Hu Y, Sun Q, Jain D, Broome J, Chen M-H, Thibord F, McHugh C, Surendran P, Blackwell TW, et al. Whole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative. Hum Mol Genet. 2021 .

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